ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27846C>T (p.Ser9282=)

gnomAD frequency: 0.00017  dbSNP: rs182355009
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040070 SCV000063761 likely benign not specified 2012-06-26 criteria provided, single submitter clinical testing Ser8038Ser in exon 93 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2.3% (3/132) of Mexi can chromosomes a broad population by the 1000 Genomes Project (dbSNP rs18235500 9). Ser8038Ser in exon 93 of TTN (rs182355009; allele frequency = 2.3%, 3/132)
Labcorp Genetics (formerly Invitae), Labcorp RCV000230887 SCV000286548 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000040070 SCV000336364 likely benign not specified 2015-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000040070 SCV000515109 benign not specified 2015-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001839564 SCV002101948 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839565 SCV002101949 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839566 SCV002101950 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839563 SCV002101951 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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